Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP4
Variant:p.D73A

GTPBP4

326 papers

RefSeq Summary

GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means...

Pfam Domains

NOG1_Naa 6–165UCSCNOG1 N-terminal helical domain
NOG1aa 235–292UCSCNucleolar GTP-binding protein 1 (NOG1)
NOGCTaa 395–446UCSCNOGCT (NUC087) domain

Gene Aliases

HGNC Name

GTP binding protein 4

HGNC Alias Symbols

CRFG; FLJ10690; FLJ10686; NOG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012341.3
p.D73A
c.218A>C
Surrounding Variants
1 paper
NM_012341.3
p.D73V
c.218A>T
1 paper
NM_012341.3
p.L72L
c.214T>C
1 paper
NM_012341.3
p.D68A
c.203A>C
1 paper
NM_012341.3
p.R61S
c.183A>T
1 paper
NM_012341.3
p.D60A
c.179A>C
1 paper
NM_012341.3
p.D73_D74Splc
c.219+42C>A
1 paper
NM_012341.3
p.Q55H
c.165A>C
1 paper
NM_012341.3
p.Q55H
c.165A>T
1 paper
NM_012341.3
p.T54I
c.161C>T
2 papers
NM_012341.3
p.T54A
c.160A>G
1 paper
NM_012341.3
p.R49S
c.147A>T
1 paper
NM_012341.3
p.R49T
c.146G>C
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